Evaluation of the first 5 years of a glutaric aciduria type I neonatal screening programme in Asturias.

INTRODUCTION: . Neonatal screening of glutaric aciduria type 1 (GA-1) has brought radical changes in the course and outcomes of this disease. This study analyses the outcomes of the first 5 years (2015-2019) of the AGA1 neonatal screening programme in our autonomous community. MATERIAL: . We conducted an observational, descriptive and retrospective study. All neonates born between January 1, 2015 and December 31, 2019 that participated in the neonatal screening programme were included in the study. The glutarylcarnitine (C5DC) concentration in dry blood spot samples was measured by means of tandem mass spectrometry applying a cut-off point of 0.25 µmol/L. RESULTS: . A total of 30 120 newborns underwent screening. We found differences in the C5DC concentration based on gestational age, type of feeding and hours of life at sample collection. These differences were not relevant for screening purposes. There were no differences between neonates with weights smaller and greater than 1500 g. Screening identified 2 affected patients and there were 3 false positives. There were no false negatives. The diagnosis was confirmed by genetic testing. Patients have been in treatment since diagnosis and have not developed encephalopathic crises in the first 4 years of life. CONCLUSIONS: . Screening allowed early diagnosis of two cases of GA-1 in the first 5 years since its introduction in our autonomous community. Although there were differences in C5DC levels based on gestational age, type of feeding and hours of life at blood extraction, they were not relevant for screening.

Ventilatory Assistance Before Umbilical Cord Clamping in Extremely Preterm Infants: A Randomized Clinical Trial.

Importance: Providing assisted ventilation during delayed umbilical cord clamping may improve outcomes for extremely preterm infants. Objective: To determine whether assisted ventilation in extremely preterm infants (23 0/7 to 28 6/7 weeks' gestational age [GA]) followed by cord clamping reduces intraventricular hemorrhage (IVH) or early death. Design, Setting, and Participants: This phase 3, 1:1, parallel-stratified randomized clinical trial conducted at 12 perinatal centers across the US and Canada from September 2, 2016, through February 21, 2023, assessed IVH and early death outcomes of extremely preterm infants randomized to receive 120 seconds of assisted ventilation followed by cord clamping vs delayed cord clamping for 30 to 60 seconds with ventilatory assistance afterward. Two analysis cohorts, not breathing well and breathing well, were specified a priori based on assessment of breathing 30 seconds after birth. Intervention: After birth, all infants received stimulation and suctioning if needed. From 30 to 120 seconds, infants randomized to the intervention received continuous positive airway pressure if breathing well or positive-pressure ventilation if not, with cord clamping at 120 seconds. Control infants received 30 to 60 seconds of delayed cord clamping followed by standard resuscitation. Main Outcomes and Measures: The primary outcome was any grade IVH on head ultrasonography or death before day 7. Interpretation by site radiologists was confirmed by independent radiologists, all masked to study group. To estimate the association between study group and outcome, data were analyzed using the stratified Cochran-Mantel-Haenszel test for relative risk (RR), with associations summarized by point estimates and 95% CIs. Results: Of 1110 women who consented to participate, 548 were randomized and delivered infants at GA less than 29 weeks. A total of 570 eligible infants were enrolled (median [IQR] GA, 26.6 [24.9-27.7] weeks; 297 male [52.1%]). Intraventricular hemorrhage or death occurred in 34.9% (97 of 278) of infants in the intervention group and 32.5% (95 of 292) in the control group (adjusted RR, 1.02; 95% CI, 0.81-1.27). In the prespecified not-breathing-well cohort (47.5% [271 of 570]; median [IQR] GA, 26.0 [24.7-27.4] weeks; 152 male [56.1%]), IVH or death occurred in 38.7% (58 of 150) of infants in the intervention group and 43.0% (52 of 121) in the control group (RR, 0.91; 95% CI, 0.68-1.21). There was no evidence of differences in death, severe brain injury, or major morbidities between the intervention and control groups in either breathing cohort. Conclusions and Relevance: This study did not show that providing assisted ventilation before cord clamping in extremely preterm infants reduces IVH or early death. Additional study around the feasibility, safety, and efficacy of assisted ventilation before cord clamping may provide additional insight. Trial Registration: ClinicalTrials.gov Identifier: NCT02742454.

MTHFR 677 C > T Gene Polymorphism is Associated with Large for Gestational Age Infants.

BACKGROUND: The aim of this study was to investigate the methylenetetrahydrofolate reductase (MTHFR) 677 C > T gene polymorphism in term infants born small (SGA), appropriate (AGA), and large for gestational age (LGA). METHODS: The study comprised 165 newborns with SGA, LGA and AGA. Genomic DNA was isolated from the peripheral blood. Samples were genotyped for MTHFR 677 C > T gene polymorphisms using PCR-RFLP. RESULTS: There was a statistically significant difference between the genotype and their allelic distribution of AGA, SGA, and LGA. The newborns carrying the TT genotype had higher birth weight than those carrying the CC and CT genotypes. The frequency of MTHFR 677 TT genotype and T allele was significantly higher and was found to be linked with a higher risk in LGA than in the AGA group. CONCLUSIONS: The MTHFR 677 C > T gene polymorphism can be used as a genetic marker in Turkish LGA newborns, but not in SGA.

The impact of a biocellulose-based repair of fetal open spina bifida on the need to untether the cord: is it time to unify techniques for prenatal repair?

OBJECTIVE: To report the need for cord untethering after prenatal repair of open spina bifida using a unique biocellulose-based technique performed at a later gestational age. METHODS: An observational cohort study was conducted to determine the incidence of tethered cord syndrome. Between May 2013 and May 2022, we performed 172 procedures using the percutaneous fetoscopic approach in fetuses at 26-28 weeks of gestation. After placode dissection, a biocellulose patch was placed to cover the placode, a myofascial flap (when possible) was dissected, and the skin was closed. Owing to death or loss to follow-up, 23 cases were excluded. Cord tethering syndrome was defined as symptoms of medullary stretching, and the infants were evaluated and operated on by local neurosurgeons after an magnetic resonance imaging examination. Infants over 30-month had ambulation and neurodevelopment evaluations (PEDI scale). RESULTS: Among 172 cases operated at a median gestational age of 26.7 weeks and delivered at 33.2 weeks, 149 cases were available for postnatal follow-up, and cord untethering was needed in 4.4% of cases (6/136; excluding 13 cases younger than 12 months). Cerebrospinal fluid diversion and bladder catheterization were needed in 38% and 36% of cases, respectively. Of the 78 cases evaluated at 30 months, 49% were ambulating independently, and 94% had normal social function. CONCLUSION: The biocellulose-based technique was associated with a low rate of cord tethering, wich may be attributed to the lack of the duramater suture during prenatal repair, the formation of a neoduramater and/or later gestational age of surgery.

Epidemiological analysis of congenital glaucoma: a national scenario.

INTRODUCTION: Congenital glaucoma is a disease that involves increased intraocular pressure and can result in irreversible visual deterioration. The study of epidemiology allows the delineation of the characteristics associated with patients and specific risk factors. OBJECTIVE: The objective of this study was to examine epidemiological trends, place of residence, duration of gestation, sex, and race of the newborn diagnosed with congenital glaucoma in Brazil. METHODS: Data from SINASC (National Live Birth System) were used to analyze the period from 2017 to 2021 in Brazil. Linear regression and analysis of variance tests were employed to assess significance. The statistical significance was determined by p<0.05. RESULTS: A total of 47 cases of congenital glaucoma were identified in Brazil during the study period, with the highest incidence between the years of 2018 and 2021. The analysis of the distribution indicated that the states with the highest incidence were São Paulo, followed by Rio Grande do Sul and Pernambuco. Approximately 60% of cases occurred in male individuals, compared with 19 female cases. The ethnic analysis showed the highest incidence among whites and mixed. Regarding the length of pregnancy, statistical differences were observed between newborns of different periods of gestation. Infants born from pregnancies lasting between 28 and 31 weeks and 32 and 36 weeks were significant when analyzed with the group between 37 and 41 weeks. CONCLUSION: Studies on the mechanisms of congenital glaucoma seek to improve knowledge about the disease. Epidemiological evaluation is essential for identifying demographic and clinical patterns of the disease.

Tear Proteomics in Infants at Risk of Retinopathy of Prematurity: A Feasibility Study.

Purpose: This feasibility study investigated the practicability of collecting and analyzing tear proteins from preterm infants at risk of retinopathy of prematurity (ROP). We sought to identify any tear proteins which might be implicated in the pathophysiology of ROP as well as prognostic markers. Methods: Schirmer's test was used to obtain tear samples from premature babies, scheduled for ROP screening, after parental informed consent. Mass spectrometry was used for proteomic analysis. Results: Samples were collected from 12 infants, which were all adequate for protein analysis. Gestational age ranged from 25 + 6 to 31 + 1 weeks. Postnatal age at sampling ranged from 19 to 66 days. One infant developed self-limiting ROP. Seven hundred one proteins were identified; 261 proteins identified in the majority of tear samples, including several common tear proteins, were used for analyses. Increased risk of ROP as determined by the postnatal growth ROP (G-ROP) criteria was associated with an increase in lactate dehydrogenase B chain in tears. Older infants demonstrated increased concentration of immunoglobulin complexes within their tear samples and two sets of twins in the cohort showed exceptionally similar proteomes, supporting validity of the analysis. Conclusions: Tear sampling by Schirmer test strips and subsequent proteomic analysis by mass spectrometry in preterm infants is feasible. A larger study is required to investigate the potential use of tear proteomics in identification of ROP. Translational Relevance: Tear sampling and subsequent mass spectrometry in preterm infants is feasible. Investigation of the premature tear proteome may increase our understanding of retinal development and provide noninvasive biomarkers for identification of treatment-warranted ROP.

The effect of oral motor intervention with different initiation times to improve feeding outcomes in preterm infants: protocol for a single-blind, randomized controlled trial.

BACKGROUND: Premature infants commonly encounter difficulties with oral feeding, a complication that extends hospital stays, affects infants' quality of life, and imposes substantial burdens on families and society. Enhancing preterm infants' oral feeding skills and facilitating their transition from parenteral or nasal feeding to full oral feeding pose challenges for neonatal intensive care unit (NICU) healthcare professionals. Research indicates that oral motor interventions (OMIs) can enhance preterm infants' oral feeding capabilities and expedite the transition from feeding initiation to full oral feeding. Nonetheless, the most suitable timing for commencing these interventions remains uncertain. METHODS: This is a single-blind, randomized controlled trial. Preterm with a gestational age between 29+0 to 34+6 weeks will be eligible for the study. These infants will be randomized and allocated to one of two groups, both of which will receive the OMIs. The intervention commences once the infant begins milk intake during the early OMIs. Additionally, in the late OMIs group, the intervention will initiate 48 h after discontinuing nasal continuous positive airway pressure. DISCUSSION: OMIs encompass non-nutritive sucking and artificial oral stimulation techniques. These techniques target the lips, jaw, muscles, or tongue of premature infants, aiming to facilitate the shift from tube feeding to oral feeding. The primary objective is to determine the ideal intervention timing that fosters the development of oral feeding skills and ensures a seamless transition from parenteral or nasal feeding to full oral feeding among preterm infants. Furthermore, this study might yield insights into the long-term effects of OMIs on the growth and neurodevelopmental outcomes of preterm infants. Such insights could bear substantial significance for the quality of survival among preterm infants and the societal burden imposed by preterm birth. TRIAL REGISTRATION: chictr.org.cn ChiCTR2300076721. Registered on October 17, 2023.

Comparison of growth patterns in the first year of life between term small for gestational age and appropriate for gestational age South Indian infants.

BACKGROUND: Early life growth trajectories of Indian small for gestational age (SGA) infants are sparse. This study aimed to compare longitudinal growth in appropriate for gestational age (AGA) and SGA infants during their first year of life. METHODS: Apparently healthy term infants (52 SGA, 154 AGA) were recruited at birth and followed up till 1 year. Parental, sociodemographic characteristics and feeding patterns were recorded. Anthropometric measurements were assessed at birth, 3, 6, 9 and 12 months of age; Z scores and growth velocity at 3-month intervals were computed. Longitudinal measurements were compared between the two groups, using the two-way Friedmans test. Median regression with mixed effects was used to adjust covariates; p value <0.05 was considered statistically significant. RESULT: AGA infants had significantly higher median weight (kg) (2.87 (2.67, 3.04) vs 2.39 (2.25, 2.54)) at birth, (7.08 (6.50, 7.54) vs 6.49 (6.13, 6.78)) at 6 months, (8.64 (7.92, 9.14) vs 7.90 (7.36, 8.54)) at 12 months, median length (cm) ((48.10 (47.20, 49.30) vs 46.75 (45.43, 47.50)) at birth, (65.50 (64.23, 66.98) vs 63.33 (62.26, 65.28)) at 6 months, (73.30 (71.58, 74.66) vs 71.55 (70.00, 73.30)) at 12 months. SGA infants had comparable weight velocity at all intervals except 9-12 months (6.62 (6.45, 6.79) vs (6.70 (6.51, 6.85)), being significantly higher than AGA infants. Differences in skinfold thicknesses between groups were observed only at birth. Exclusivity of breast feeding was significantly higher at 3 months in AGA, compared to SGA infants (80.9% vs 57.8%). Length velocity was comparable at all ages between groups. Sexual dimorphism was observed in the growth velocities of both groups. CONCLUSION: SGA infants grew in parallel to AGA infants, having significantly lower anthropometric measurements at all time points. However, growth velocities were similar; SGA infants had significantly higher weight velocity from 9 to 12 months. Longitudinal studies beyond 1 year of age, using body composition are needed to determine the quality of growth in Indian infants.

Validation of postnatal growth and retinopathy of prematurity (G-ROP) screening guidelines in a tertiary care hospital of Pakistan: A report from low-middle income country.

Retinopathy of Prematurity (ROP) significantly contributes to childhood blindness globally, with a disproportionately high burden in low- and middle-income countries (LMICs) due to improved neonatal care alongside inadequate ROP screening and treatment facilities. This study aims to validate the performance of Postnatal Growth and Retinopathy of Prematurity (G-ROP) screening criteria in a cohort of premature infants presenting at a tertiary care setting in Pakistan. This cross-sectional study utilized retrospective chart review of neonates admitted to the neonatal intensive care unit (NICU) at The Aga Khan University Hospital, Pakistan from January 2018 to February 2022. The complete G-ROP criteria were applied as prediction tool for infants with type 1 ROP, type 2 ROP, and no ROP outcomes. Out of the 166 cases, 125 cases were included in the final analysis, and remaining cases were excluded due to incomplete data. ROP of any stage developed in 83 infants (66.4%), of whom 55 (44%) developed type 1 ROP, 28 (22.4%) developed type 2 ROP, and 19 (15.2%) were treated for ROP. The median BW was 1060 gm (IQR = 910 to 1240 gm) and the median gestational age was 29 wk (IQR = 27 to 30 wk). The G-ROP criteria demonstrated a sensitivity of 98.18% (95% CI: 90.28-99.95%) for triggering an alarm for type 1 ROP. The G-ROP criteria achieved 100% sensitivity (95% CI: 87.66 to 100%) for type 2 ROP. The overall sensitivity of G-ROP criteria to trigger an alarm for any type of ROP was 98.8% (95% CI: 93.47 to 99.97%). Thus, the G-ROP screening model is highly sensitive in detecting at-risk infants for ROP in a Pakistani tertiary care setting, supporting its use in LMICs where standard screening criteria may not suffice.

Breastfeeding Practice Before Bottle-Feeding: An Initiative to Increase the Rate of Breastfeeding for Preterm Infants at the Time of Neonatal Intensive Care Unit Discharge.

Preterm babies who received 72 hours of breastfeeding practice before introducing a bottle had significantly higher rates of breastfeeding at the time of neonatal intensive care unit (NICU) discharge than did babies who were introduced to bottle-feeding with or before breastfeeding during the first 72 hours of oral feeding or babies who were primarily bottle-fed. There were no statistical differences in corrected gestational age (CGA) at birth, first oral feeding, or full oral feeds, in days from first to full oral feeds, or in CGA or days of life at NICU discharge.

Cervical elastography in predicting spontaneous preterm birth in singleton pregnancy with a short cervix receiving progesterone treatment at 18 to 24 weeks' gestation.

BACKGROUND: A short cervix in the second trimester is known to increase the risk of preterm birth, which can be reduced with the administration of vaginal progesterone. However, some studies have suggested that a significant number of cases still experience preterm birth despite progesterone treatment. OBJECTIVE: This study was aimed to investigate the potential value of transvaginal cervical elasticity measured by E-Cervix as a predictor for spontaneous preterm birth (sPTB) in singleton pregnancies receiving progesterone treatment for a short cervix (CL ≤ 2.5 cm) diagnosed at 18 to 24 weeks' gestation. STUDY DESIGN: This prospective study was conducted at a single center premature high-risk clinic from January 2020 to July 2022. Singleton pregnancies with a short cervix at 18 to 24 weeks' gestation were enrolled. Cervical elastography using E-Cervix was performed, and maternal and neonatal demographic characteristics, cervical length (CL), elasticity contrast index (ECI), cervical hardness ratio, mean internal os strain (IOS), and mean external os strain (EOS) were compared before and after progesterone treatment in sPTB and term birth groups. Multivariate logistic regression was used to analyze the association between elasticity parameters and spontaneous preterm birth. The screening performance of CL and optimal cervical elasticity parameters in predicting sPTB was evaluated using receiver-operating characteristic (ROC) curve analysis. RESULTS: A total of 228 singleton pregnant women were included in the study, among which 26 (11.4%) had sPTB. There were no significant differences in maternal characteristics and gestational age at enrollment between women with and without sPTB. At the start of progesterone treatment, there were no significant differences in cervical elasticity parameters between the two groups. After two weeks of progesterone treatment, women who had sPTB showed significantly higher levels of ECI, IOS, EOS (p = 0.0108, 0.0001, 0.016), and lower hardness ratio (p = 0.011) compared to those who had a full-term birth. Cervical length did not show significant differences between the two groups, regardless of whether progesterone treatment was administered before or after. Among the post-treatment cervical elasticity parameters, IOS and EOS were associated with a 3.38-fold and 2.29-fold increase in the risk of sPTB before 37 weeks (p = 0.032, 0.047, respectively). The AUROC of the combined model including CL, IOS, and EOS (0.761, 95% CI0.589-0.833) was significantly higher than the AUROC of CL alone (0.618, 95% CI 0.359-0.876). At a fixed false-positive of 13%, the addition of IOS and EOS in the CL model increased sensitivity from 34.6% to 57.6%, PPV from 25.7% to 36.5%, and NPV from 91.1% to 94.1%. CONCLUSION: When assessing the risk of sPTB in singleton pregnancies with a short cervix receiving progesterone therapy, relying solely on cervical length is insufficient. It is crucial to also evaluate cervical stiffness, particularly the strain of the internal and external os, using cervical elastography.

Does the use of antenatal corticosteroids reduce respiratory morbidity in babies born in late preterm period?

BACKGROUND: The aim of this study is to determine the effectiveness of antenatal corticosteroid in reducing respiratory morbidity in babies born in the late preterm period. METHODS: Two hundred and eighty-six pregnant women at risk of having a late preterm delivery were studied. One hundred and forty-three (143) served as the cases and were given 2 doses of 12 mg intramuscular dexamethasone 12 h apart, while 143 served as the controls and were given a similar quantity of placebo. The women were followed up prospectively and data were collected on the pregnant women and their newborns on a standardized form. The neonates were assessed for acute respiratory distress syndrome and transient tachypnea of the newborn based on clinical signs, symptoms, and chest x-ray results (when indicated). The primary outcome was the occurrence of neonatal respiratory morbidity. RESULTS: The primary outcome occurred in 5 out of 130 infants (3.8%) in the dexamethasone group and 31 out of 122 (25.4%) in the placebo group (P value = 0.000003). Birth asphyxia, neonatal intensive care admission and need for active resuscitation at birth also occurred significantly less frequently in the dexamethasone group (P value 0.004, 0.009, 0.014 respectively). There were no significant group differences in the incidence of neonatal sepsis, neonatal jaundice, hypoglycemia and feeding difficulties. CONCLUSIONS: Administration of dexamethasone to women at risk for late preterm delivery significantly reduced the rate of neonatal respiratory complications, neonatal intensive care unit admission, and need for active resuscitation at birth. TRIAL REGISTRATION: PACTR ( www.pactr.org ) Registration Number: PACTR202304579281358. The study was retrospectively registered on April 19, 2023.

Third stage of the kangaroo method: exclusive breastfeeding and growth of preterm and/or low birth weight newborns.

OBJECTIVE: To evaluate the rates of exclusive breastfeeding (EBF) and growth of preterm and/or low birth weight newborns during the third stage of the Kangaroo Method (TSKM), at discharge. METHODS: Retrospective study in a reference public maternity hospital between Jan/2014 and Dec/2017, including the preterm (less than 37 weeks) and/or low birth weight (less than 2500 g) newborn infants. Information was collected from medical records. Statistics analysis was done in SPSS software. RESULTS: 482 infants were included and followed up at the TSKM ambulatory. The average gestational age was 33 weeks (variation: 24-39 weeks) and birth weight, 1715g (variation: 455-2830 g). EBF occurred in 336 (70.1%) infants at hospital discharge, and in 291 (60.4%) at TSKM discharge. Each additional day of hospital stay increased the chance of infant formula (IF) use by 9.3% at hospital discharge and by 10.3% at TSKM discharge. Staying in the Kangaroo Neonatal Intermediate Care Unit (KNICU) favored EBF at hospital discharge and TSKM discharge (p<0.001). Not performing the kangaroo position increased the chance formula administration to the newborn infant at hospital discharge by 11%. Weight gain and head circumference growth were higher in infants using formula (p<0.001). CONCLUSIONS: The length of hospital stay and not performing the kangaroo position favored the use of infant formula at hospital and TSKM discharge. Staying in the KNICU favored exclusive breastfeeding at hospital and TSKM discharge. Weight gain and HC growth were higher in newborns receiving infant formula.

Overview of the Global and US Burden of Preterm Birth.

Preterm birth (PTB) is the leading cause of morbidity and mortality in children globally, yet its prevalence has been difficult to accurately estimate due to unreliable methods of gestational age dating, heterogeneity in counting, and insufficient data. The estimated global PTB rate in 2020 was 9.9% (95% confidence interval: 9.1, 11.2), which reflects no significant change from 2010, and 81% of prematurity-related deaths occurred in Africa and Asia. PTB prevalence in the United States in 2021 was 10.5%, yet with concerning racial disparities. Few effective solutions for prematurity prevention have been identified, highlighting the importance of further research.

Etiologically Based Functional Taxonomy of the Preterm Birth Syndrome.

Preterm birth (PTB) is a complex syndrome traditionally defined by a single parameter, namely, gestational age at birth (ie, ˂37 weeks). This approach has limitations for clinical usefulness and may explain the lack of progress in identifying cause-specific effective interventions. The authors offer a framework for a functional taxonomy of PTB based on (1) conceptual principles established a priori; (2) known etiologic factors; (3) specific, prospectively identified obstetric and neonatal clinical phenotypes; and (4) postnatal follow-up of growth and development up to 2 years of age. This taxonomy includes maternal, placental, and fetal conditions routinely recorded in data collection systems.

Neurodevelopmental outcome in preterm infants with intraventricular hemorrhages: the potential of quantitative brainstem MRI.

OBJECTIVES: This retrospective study aimed to identify quantitative magnetic resonance imaging markers in the brainstem of preterm neonates with intraventricular hemorrhages. It delves into the intricate associations between quantitative brainstem magnetic resonance imaging metrics and neurodevelopmental outcomes in preterm infants with intraventricular hemorrhage, aiming to elucidate potential relationships and their clinical implications. MATERIALS AND METHODS: Neuroimaging was performed on preterm neonates with intraventricular hemorrhage using a multi-dynamic multi-echo sequence to determine T1 relaxation time, T2 relaxation time, and proton density in specific brainstem regions. Neonatal outcome scores were collected using the Bayley Scales of Infant and Toddler Development. Statistical analysis aimed to explore potential correlations between magnetic resonance imaging metrics and neurodevelopmental outcomes. RESULTS: Sixty preterm neonates (mean gestational age at birth 26.26 ± 2.69 wk; n = 24 [40%] females) were included. The T2 relaxation time of the midbrain exhibited significant positive correlations with cognitive (r = 0.538, P < 0.0001, Pearson's correlation), motor (r = 0.530, P < 0.0001), and language (r = 0.449, P = 0.0008) composite scores at 1 yr of age. CONCLUSION: Quantitative magnetic resonance imaging can provide valuable insights into neurodevelopmental outcomes after intraventricular hemorrhage, potentially aiding in identifying at-risk neonates. Multi-dynamic multi-echo sequence sequences hold promise as an adjunct to conventional sequences, enhancing the sensitivity of neonatal magnetic resonance neuroimaging and supporting clinical decision-making for these vulnerable patients.

Estimating Gestational Age and Prediction of Preterm Birth Using Metabolomics Biomarkers.

Preterm birth (PTB) is a leading cause of morbidity and mortality in children aged under 5 years globally, especially in low-resource settings. It remains a challenge in many low-income and middle-income countries to accurately measure the true burden of PTB due to limited availability of accurate measures of gestational age (GA), first trimester ultrasound dating being the gold standard. Metabolomics biomarkers are a promising area of research that could provide tools for both early identification of high-risk pregnancies and for the estimation of GA and preterm status of newborns postnatally.

The significance of Syndecan 1, a new marker for endothelial dysfunction, in cases of fetal growth retardation.

PROBLEM: In the current study we aimed to investigate Syndecan 1 (SDC1) levels in pregnant women diagnosed with fetal growth restriction (FGR) and the relationship between SDC1 levels and clinical and doppler parameters in FGR cases associated with endothelial dysfunction, angiogenesis and uteroplacental insufficiency METHOD OF STUDY: A total of 90 pregnant women included in the study, (45 with FGR, 45 healthy control) matched by week of gestation and maternal age. Venous blood samples were collected and plasma concentrations of SDC1 were determined by a specific immunoassay. Doppler examination was performed to evaluate the relationship between the SDC1 levels and placental blood supply. RESULTS: Doppler parameters; mean UtA-PI (p < .001), CPR (p = .002) and CPUR (p < .001) were different between the groups, however MCA PI, umbilical artery PI and umbilical artery S/D were not (p > .05). While gestational age at delivery, birth weight, APGAR score at 1 and 5 min were significantly lower (all, p < .001) in the study group, non-reassure fetal heart rate tracing (p = .09) and NICU admission (p = .02) were significantly higher. SDC 1 level was 2,00 ± 1,47 ng/mL and 2,34 ± 1,12 ng/mL in the FGR and control groups, respectively (p = .008). In the study group SDC 1 level was 1,69 ± 2,00 in those with gestational age below 32 weeks and 2,13 ± 1,18 in those with gestational age above 32 weeks and there was a statistically significant difference between the groups (p = .015). Plasma SDC 1 concentration of 2,1850 ng/mL or less had a sensitivity of 70%, a specificity of 72%, area under the ROC curve .65 (p < .005). CONCLUSIONS: Low maternal plasma SDC1 level may be associated with placental insufficiency and FGR. Low levels of SDC1 may be helpful as a predictor for the development of FGR during gestation.

Corneal Endothelial Morphology and Ocular Biometric Indexes in Premature Children With and Without Retinopathy of Prematurity.

Purpose: The purpose of this study was to analyze human corneal endothelial cells (HCECs) morphology and ocular biometrics in premature (PM) children with or without retinopathy of prematurity (ROP). Methods: Retrospective data on patient demographics, HCECs status, and ocular biometrics with at least 2 visits between 2016 and 2021 were reviewed. The main outcomes were endothelial cell density (ECD), coefficient of variation (CV), hexagonal cell ratio (HEX), central corneal thickness (CCT), axial length, anterior chamber depth, keratometry, corneal diameter, pupil diameter, and refraction status. Generalized estimating equation was used to evaluate the differences between PM no-ROP and ROP groups. We also analyzed the trend of ECD, CV, HEX, and CCT change with age between groups. Results: The study included 173 PM patients without ROP and 139 patients with ROP. A total of 666 and 544 measurements were recorded in the PM no-ROP and ROP groups, respectively. The ROP group had higher spherical power, myopic spherical equivalent (SE), and steeper steep keratometry (K; P < 0.05). The ROP group had higher CV (P = 0.0144), lower HEX (P = 0.0012) and thicker CCT (P = 0.0035). In the HCECs parameters, the ROP group had slower ECD decrement (P < 0.0001), faster CV decrement (P = 0.0060), and faster HEX increment (P = 0.0001). A difference in corneal morphology changes between the ROP and PM no-ROP groups were prominent in patients with lower gestational age (GA) in the subgroup analysis. Conclusions: Worse HCECs morphology and higher myopic status were initially observed in patients with prior ROP but not in PM patients with no-ROP. ECD and HCECs morphology improved with age, especially in patients with low GA.

Evaluating pregnancy termination decisions for fetal anomalies: a retrospective study in a tertiary referral center.

OBJECTIVE: The aim of this study was to examine the factors that influence pregnancy termination due to fetal anomalies, regardless of gestational age, within the legal framework of Turkey. METHODS: This retrospective study was conducted between January 2021 and July 2023 at a tertiary perinatology center to analyze patients undergoing pregnancy termination. The process involved multidisciplinary evaluations and informed consent, resulting in 326 pregnancy terminations, categorized by gestational timing. RESULTS: Of the 326 patients studied, 219 opted for terminations. Gestational week at diagnosis significantly influenced the decision to terminate, with fetal anomalies being the primary indication. Chromosomal abnormalities accounted for 15.9% of the cases, while structural anomalies and maternal disorders accounted for 84.1% and structural malformations accounted for 84.1% of the cases. Late terminations (≥23 weeks) accounted for 30% of cases and required complex procedures. CONCLUSION: The findings of this study indicate that maternal demographic factors have a limited impact on termination decisions. Early diagnosis of fetal anomalies is crucial for informed decision-making and emotional support, and the psychological consequences of late termination highlight the need for maternal support. Obstetricians play a vital role in facilitating early intervention. This study underscores the complex medical, ethical, and psychological aspects of pregnancy termination due to fetal anomalies. It emphasizes the importance of a holistic approach, considering medical, ethical, and psychological factors and the crucial role of healthcare professionals in supporting families during this challenging process.